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Markedly hypercellular bone marrow with moderate reticulin fibrosis, left shift, and megakaryocytic hyperplasia without overt megakaryocytic dysplasia.
Source publication
Autoimmune myelofibrosis is a distinct clinicopathologic entity that occasionally occurs with autoimmune disorders such as systemic lupus erythematosus (SLE) and rheumatoid arthritis. Most cases of autoimmune myelofibrosis have been reported in female patients with a known history of SLE. We report a case of a middle-aged male patient with an unusu...
Similar publications
Bone marrow fibrosis (BMF) is a histopathological finding appreciated in a multitude of conditions such as myeloproliferative diseases and malignant neoplasms, along with autoimmune disorders. Autoimmune myelofibrosis (AIMF) is a particularly uncommon etiology of benign BMF. AIMF may be primary with serologic evidence of autoantibodies or secondary...
Citations
... However, in cases of persistent and long-term cytopenias, bone marrow assessment should not be overlooked. 2 The most common bone marrow abnormalities include hypocellularity, plasmacytosis, hemophagocytosis, dyserythropoiesis, and aplastic bone marrow. Myelofibrosis accounts for only 5%. 3 In a patient with myelofibrosis, distinguishing between primary and secondary myelofibrosis is crucial as the treatment approaches differ. ...
The use of rituximab proved beneficial in treating the bone marrow fibrosis
associated with SLE in our clinical experience.
... The pathogenesis of AIMF is not completely understood, but appears to be a relative nonspecific response of fibroblasts to underlying cellular abnormalities [3]. Increased reticulin is the result of fibroblast proliferation and increased collagen synthesis or altered collagen turnover that appears to be due to decreased collagenase release [9]. Primary myelofibrosis is diagnosed usually in the sixth decade of life (median age is 66 years) and more commonly in males. ...
Patient: Female, 20
Final Diagnosis: Systemic lupus erythematosus (SLE)
Symptoms: Anemia • fatigue • weakness
Medication: —
Clinical Procedure: —
Specialty: Rheumatology
Objective
Rare co-existance of disease or pathology
Background
Systemic lupus erythematosus (SLE) is characterized by multiorgan involvement and presence of autoantibodies. SLE has a broad range of presentations and manifestations, and as such, its course and organ involvement are unpredictable. The disease results from the interaction of genes, environment, and random effects combining to lead to a loss of tolerance to self-antigens and active autoimmunity. Autoimmune myelofibrosis is a type of non-malignant bone marrow fibrosis that occurs in the presence of systemic autoimmune disease. Cytopenias such as anemia, leukopenia, and thrombocyotopenia are common manifestations of SLE; however, myelofibrosis is a less common and far less recognized complication of SLE.
Case Report
We report a case of a young African American female who presented with severe anemia and leukopenia, subsequently diagnosed with myelofibrosis and then eventually SLE. The identification of myelofibrosis in SLE is critical as it can be a devastating condition when untreated. Fortunately, autoimmune myelofibrosis in SLE is reversible with treatment of the underlying condition.
Conclusions
Autoimmune myelofibrosis is a rare complication of SLE. Autoimmune myelofibrosis could be the first and only presenting feature of SLE. It is sensible to recognize this relationship, as prompt diagnosis and treatment is crucial. Corticosteroids have been shown to be useful in treating both SLE and the associated autoimmune myelofibrosis.
... In contrast, PMF is characterized by bone marrow findings of moderate-tosevere reticulin fibrosis and the presence of megakaryocytic proliferation and atypia [32]. Cytopenias, leukoerythroblastosis, and presence of teardrop poikilocytosis may be seen in the peripheral blood of both AIMF and PMF [28,33]. However, eosinophilia and basophilia are not features of AIMF [28,29,34]. ...
Bone marrow abnormalities in SLE are now becoming increasingly recognized, suggesting that the bone marrow may also be an important site of target organ damage. In this study, we present a rare case of concurrent autoimmune hemophagocytic syndrome and autoimmune myelofibrosis, potentially life-threatening conditions, in a newly diagnosed SLE patient. We report a case of a 30-year-old Filipino woman who presented with a one-year history of fever, constitutional symptoms, exertional dyspnea, joint pains, and alopecia and physical examination findings of fever, facial flushing, cervical lymphadenopathies, and knee joint effusions. Laboratory workup revealed pancytopenia with leukoerythroblastosis, elevated ESR, increased serum levels of transaminases, elevated CRP and LDH, hyperferritinemia, hypertriglyceridemia, proteinuria, hepatomegaly, and positive antinuclear antibody. Bone marrow aspiration and trephine biopsy revealed hemophagocytosis and moderate myelofibrosis. The patient was diagnosed with SLE with concomitant autoimmune-associated hemophagocytic syndrome and autoimmune myelofibrosis. Treatment with high-dose corticosteroids led to dramatic clinical improvement with normalization of laboratory data and complete resolution of bone marrow hemophagocytosis and myelofibrosis. Hemophagocytosis and myelofibrosis, although uncommon, are possible initial manifestations of SLE and should be included in the differential diagnosis of cytopenias in SLE. Thorough clinical assessment and microscopic bone marrow examination and timely initiation of corticosteroid therapy are essential in the diagnosis and management of these potentially life-threatening conditions. This case emphasizes that the bone marrow is an important site of target organ damage in SLE, and evaluation of cytopenias in SLE should take this into consideration.
... Both neoplastic and autoimmune MF has been related to SLE [5,[7][8][9][10], so that it seems of particular importance to perform an early diagnosis and to decide the appropriate treatment. Neoplastic forms of MF include PMF, chronic and acute myeloid malignancies, lymphoid neoplasms, mast cell disease and carcinomas metastatic to the marrow [7][8][9]. ...
Blood cytopenia represents one of the diagnostic criteria for systemic lupus erythematosus (SLE) and may occur as the first symptom of the disease. Antibody-mediated peripheral destruction of blood cells is the main cause of cytopenia observed in patients affected by SLE, however, inflammatory anemia, nutritional deficiencies, immunosuppressive therapy and, more rarely, myelofibrosis (MF) have also been documented. In the literature, 45 cases of autoimmune MF (AIMF) and SLE have been previously reported. Here the 46
th
case of a 43-year-old female with a SLE and an underhand cytopenia, with a review of the literature.
OBJECTIVE: Bone marrow fibrosis in primary immune thrombocytopenia (ITP) has become a centre of attention since cases with fibrosis were reported during trombopoeitin receptor agonist therapies but, there have been few studies evaluating the fibrosis status of the patients at diagnosis. The aim of the study was to evaluate the impact of marrow fibrosis on especially response to treatment and prognosis in patients with ITP. MATERIAL AND METHODS: Bone marrow reticulin fiber grade, haemoglobin, platelets, age, sex, co-morbidities of the patients, hepatitis and autoimmune markers on admission, response, remission status and duration of remission and treatments were recorded from medical files of the patients and each parameter was evaluated for an association with reticular fiber grade in 53 patients with ITP. RESULTS: 79.3% of patients had marrow reticulin content grade 1 or more. No significant correlations were found between bone marrow reticular fiber grade and total blood count at diagnosis, response times to the first, second- and third-line treatment, platelet counts after treatment and time between two treatment lines, age, gender, presence of comorbidity and antinuclear antibody positivity and response rate and time. There was a significant and positive correlation between platelet count at diagnosis and age (p<0.05) and, there was a statistically significant and negative correlation between white blood and neutrophil count at diagnosis and age (p<0.05) CONCLUSIONS: For the first time, higher grade of fibrosis was found in patients with ITP. Prospective studies with follow-up bone marrow biopsies are needed to validate the link between ITP and autoimmune fibrosis.
Bone marrow fibrosis is a rare disorder that can be associated with autoimmune diseases such as systemic lupus erythematosus (SLE), and can be confused with the manifestations of that disease. The case is presented on a patient with autoimmune myelofibrosis in the context of SLE.
Resumen
La fibrosis de la médula ósea es una enfermedad rara que se puede ver asociada con enfermedades autoinmunes como el lupus eritematoso sistémico (LES) y que puede llegar a ser confundida con las manifestaciones propias de la enfermedad. Se presenta el caso de una paciente con mielofibrosis autoinmune en el contexto de LES.
Background:
Recent evidence has suggested that the 1,25(OH)2D3/Vitamin D receptor (VDR) acts to suppress the immune response associated with systemic lupus erythematosus (SLE), a serious multisystem autoimmune disease. Hence, the aim of the current study was to investigate the mechanism by which 1,25-(OH)2D3/VDR influences SLE through regulating the Skp2/p27 signaling pathway.
Methods:
Initially, the levels of 1,25(OH)2D3, VDR, Skp2, and p27 were measured in collected renal tissues and peripheral blood. Meanwhile, the levels of inflammatory factors, biochemical indicators (BUN, Cr, anti-nRNP IgG, anti-dsDNA IgG) and urinary protein levels were assayed in in VDRinsert and VDR-knockout mice in response to 1,25(OH)2D3 supplement. In addition, the distribution of splenic immune cells was observed in these mice.
Results:
Among the SLE patients, the levels of 1,25(OH)2D3, VDR and p27 were reduced, while the levels of Skp2 were elevated. In addition, the levels of anti-nRNP IgG and anti-dsDNA IgG were increased, suggesting induction of inflammatory responses. Notably, 1,25(OH)2D3/VDR mice had lower concentrations of BUN and Cr, urinary protein levels, precipitation intensity of the immune complex and complement, as well as the levels of anti-nRNP IgG and anti-dsDNA IgG in SLE mice. Additionally, 1,25(OH)2D3 or VDR reduced the degree of the inflammatory response while acting to regulate the distribution of splenic immune cells.
Conclusion:
This study indicated that 1,25-(OH)2D3/VDR facilitated the recovery of SLE by downregulating Skp2 and upregulating p27 expression, suggesting the potential of 1,25-(OH)2D3/VDR as a promising target for SLE treatment.
A 66-year-old woman presented with severe anaemia, thrombocytopenia and lymphopenia. The bone marrow biopsy demonstrated hypocellular marrow with myelofibrosis (MF); there was no evidence of malignancy, but infiltration of peripheral T and B cells were noticed. Magnetic resonance imaging (MRI) revealed that bone marrow of the spine exhibited low signal intensity (SI) with spotty high SI in T1- and T2-weighted images. Because there was evidence of autoimmune abnormality, she had fulfilled the classification criteria for systemic lupus erythematosus (SLE). She was diagnosed with autoimmune myelofibrosis (AIMF) associated with SLE and was treated with corticosteroid. Cytopenia improved after 1 month of corticosteroid therapy. A repeated bone marrow biopsy demonstrated that cellularity had increased and that the amount of reticulin fibre had reduced after treatment. Compared with primary MF, AIMF has generally a favourable prognosis and is often associated with autoimmune diseases, especially SLE. Bone marrow biopsy, but not aspiration, was useful for diagnosing bone marrow fibrosis. Although the association between SLE and MF has been rarely reported, we should pay attention to MF as a possible cause of pancytopenia.
Purpose
TAFRO syndrome is a novel disorder manifesting as fever, anasarca, thrombocytopenia, renal insufficiency and organomegaly, and its etiology has not been clarified. The aim of this study was to elucidate similarities and differences between systemic lupus erythematosus (SLE) and TAFRO syndrome.
Methods
We examined 46 consecutive patients diagnosed with SLE and determined whether they meet the proposed diagnostic criteria for TAFRO syndrome (2015 version).
Results
Of the 46 patients with SLE, four (8.7%) also met the TAFRO syndrome criteria (TAFRO-like group). All patients in the TAFRO-like group were males, and their mean age was significantly higher than that of the non-TAFRO group (67.5 ± 8.7 vs. 39.3 ± 18.1 years, p = 0.004). C-reactive protein and γ-glutamyl transpeptidase levels were significantly higher, and frequencies of anti-dsDNA and anti-Sm antibodies were significantly lower in the TAFRO-like than non-TAFRO group. Elder cases (onset age ≥ 50 years) met significantly more categories of the diagnostic criteria for TAFRO syndrome than did those with younger cases.
Conclusions
Several patients with SLE, especially elder cases, showed features similar to those of TAFRO syndrome. Although exclusion of SLE is needed in the diagnostic criteria for TAFRO syndrome, TAFRO syndrome-like SLE should be considered.
